Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Yuet-Ping Yuen"'
Case Report: Novel Biallelic Variants in the COL18A1 Gene in a Chinese Family With Knobloch Syndrome
Autor:
Shuk Ching Chong, Yuet-Ping Yuen, Ye Cao, Sze-Shing Fan, Tak Yeung Leung, Emily K. Y. Chan, Xian Lun Zhu
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Knobloch syndrome is a rare collagenopathy characterized by severe early onset myopia, retinal detachment, and occipital encephalocele with various additional manifestations due to biallelic changes in the COL18A1 gene. Here we reported a Chinese fam
Externí odkaz:
https://doaj.org/article/90af077d044c43399ffad6fed546a294
Autor:
Sheila Suet-Na Wong, Liz Yuet-Ping Yuen, Elaine Kan, Nenad Blau, Richard Rodenburg, Ching-wan Lam, Virginia Chun-Nei Wong, Fanny Mochel, Ron A. Wevers, Cheuk-Wing Fung
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101023- (2024)
With the rapid advancement of medical technologies in genomic and molecular medicine, the number of treatable neurometabolic diseases is quickly expanding. Spastic paraplegia 56 (SPG56), one of the severe autosomal recessive forms of neurodegenerativ
Externí odkaz:
https://doaj.org/article/3f9340edc6f641e7b32c95cdf0c3bfbd
Autor:
Kam Tong Leung, Alex Wing Kwan Leung, Chi-kong Li, Patrick Man Pan Yuen, Chun Chen, Junbin Huang, Qi Zhao, Ellen Ngar Yun Poon, Raymond S.M. Wong, Wayne Yuk Wai Lee, Ka-Fai To, Wei Kang, Patrick Ming-Kuen Tang, Wing Hei Ng, John Tak Kit Cheung, Yaqun Xu, Chi Zhang, Qiwei Sun, Yuet Ping Yuen, Chi Chiu So, Xiao-Bing Zhang, Tao Zhang, Chi Chiu Wang, Anskar Y.H. Leung, Wing Hang Leung, Alan K.S. Chiang, Shau Yin Ha, Tin Wai Chow, Grace Kee See Lam, Frankie Wai Tsoi Cheng, Po Yi Lee, Margaret H.L. Ng, Chi Keung Cheng, Kathy Yuen Yee Chan, Han Wang
Supplementary Data from Pharmacogenomic Profiling of Pediatric Acute Myeloid Leukemia to Identify Therapeutic Vulnerabilities and Inform Functional Precision Medicine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::340814653f430c54d027ddfe44a87c37
https://doi.org/10.1158/2643-3230.22545317.v1
https://doi.org/10.1158/2643-3230.22545317.v1
Autor:
Kam Tong Leung, Alex Wing Kwan Leung, Chi-kong Li, Patrick Man Pan Yuen, Chun Chen, Junbin Huang, Qi Zhao, Ellen Ngar Yun Poon, Raymond S.M. Wong, Wayne Yuk Wai Lee, Ka-Fai To, Wei Kang, Patrick Ming-Kuen Tang, Wing Hei Ng, John Tak Kit Cheung, Yaqun Xu, Chi Zhang, Qiwei Sun, Yuet Ping Yuen, Chi Chiu So, Xiao-Bing Zhang, Tao Zhang, Chi Chiu Wang, Anskar Y.H. Leung, Wing Hang Leung, Alan K.S. Chiang, Shau Yin Ha, Tin Wai Chow, Grace Kee See Lam, Frankie Wai Tsoi Cheng, Po Yi Lee, Margaret H.L. Ng, Chi Keung Cheng, Kathy Yuen Yee Chan, Han Wang
Despite the expanding portfolio of targeted therapies for adults with acute myeloid leukemia (AML), direct implementation in children is challenging due to inherent differences in underlying genetics. Here we established the pharmacologic profile of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41072df45b1d12a7e0dd4c70d3befc4e
https://doi.org/10.1158/2643-3230.c.6550904
https://doi.org/10.1158/2643-3230.c.6550904
Autor:
Kam Tong Leung, Alex Wing Kwan Leung, Chi-kong Li, Patrick Man Pan Yuen, Chun Chen, Junbin Huang, Qi Zhao, Ellen Ngar Yun Poon, Raymond S.M. Wong, Wayne Yuk Wai Lee, Ka-Fai To, Wei Kang, Patrick Ming-Kuen Tang, Wing Hei Ng, John Tak Kit Cheung, Yaqun Xu, Chi Zhang, Qiwei Sun, Yuet Ping Yuen, Chi Chiu So, Xiao-Bing Zhang, Tao Zhang, Chi Chiu Wang, Anskar Y.H. Leung, Wing Hang Leung, Alan K.S. Chiang, Shau Yin Ha, Tin Wai Chow, Grace Kee See Lam, Frankie Wai Tsoi Cheng, Po Yi Lee, Margaret H.L. Ng, Chi Keung Cheng, Kathy Yuen Yee Chan, Han Wang
Supplementary Figure from Pharmacogenomic Profiling of Pediatric Acute Myeloid Leukemia to Identify Therapeutic Vulnerabilities and Inform Functional Precision Medicine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::242d586dd08c36ec116ff3489f689f1d
https://doi.org/10.1158/2643-3230.22545314
https://doi.org/10.1158/2643-3230.22545314
Autor:
Han Wang, Kathy Yuen Yee Chan, Chi Keung Cheng, Margaret H.L. Ng, Po Yi Lee, Frankie Wai Tsoi Cheng, Grace Kee See Lam, Tin Wai Chow, Shau Yin Ha, Alan K.S. Chiang, Wing Hang Leung, Anskar Y.H. Leung, Chi Chiu Wang, Tao Zhang, Xiao-Bing Zhang, Chi Chiu So, Yuet Ping Yuen, Qiwei Sun, Chi Zhang, Yaqun Xu, John Tak Kit Cheung, Wing Hei Ng, Patrick Ming-Kuen Tang, Wei Kang, Ka-Fai To, Wayne Yuk Wai Lee, Raymond S.M. Wong, Ellen Ngar Yun Poon, Qi Zhao, Junbin Huang, Chun Chen, Patrick Man Pan Yuen, Chi-kong Li, Alex Wing Kwan Leung, Kam Tong Leung
Publikováno v:
Blood cancer discovery. 3(6)
Despite the expanding portfolio of targeted therapies for adults with acute myeloid leukemia (AML), direct implementation in children is challenging due to inherent differences in underlying genetics. Here we established the pharmacologic profile of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ca555489fe5f18c2d08b830dac9f9f2
https://pubmed.ncbi.nlm.nih.gov/35960210
https://pubmed.ncbi.nlm.nih.gov/35960210
Autor:
Ching-Wan Lam, Angel Ok Chan, WL Yeung, YF Cheung, Yuet-Ping Yuen, Eva Lai-Wah Fung, CY Law, HF Chan, Joannie Hui, Iris Ok Yung
Publikováno v:
Hong Kong Medical Journal. :619-622
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13acf90e47e5c98e8f7f53e824ca838d
https://doi.org/10.12809/hkmj154579
https://doi.org/10.12809/hkmj154579
Autor:
Annapurna Poduri, Amy L Schneider, Yuet Ping Yuen, Wai Km Chak, Heather C Mefford, Deepak Gill, Anne M Rochtus, Gabriel M. Ronen, Ingrid E. Scheffer, Michele G. Mehaffey, Candace T. Myers, Katja E. Boysen
Publikováno v:
Developmental medicine and child neurologyReferences. 62(9)
Epilepsy of infancy with migrating focal seizures (EIMFS), one of the most severe developmental and epileptic encephalopathy syndromes, is characterized by seizures that migrate from one hemisphere to the other. EIMFS is genetically heterogeneous wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0526bb9ffc045043bc5ea73e5fcf0381
https://pubmed.ncbi.nlm.nih.gov/31879938
https://pubmed.ncbi.nlm.nih.gov/31879938
Autor:
Felix Chi Kin Wong, Wai Sheung Wong, Jeffrey Sung Shing Kwok, Teresa Kam Chi Tsui, Kam Piu Lau, Michael Ho Ming Chan, Yuet Ping Yuen
Publikováno v:
F1000Research, Vol 8 (2019)
Familial hypocalciuric hypercalcaemia (FHH) is a genetic disorder of altered calcium homeostasis. Mutations in the CASR, GNA11 and AP2S1 genes have been reported to cause FHH. We report a Hong Kong Chinese kindred with FHH type 3 (FHH3) caused by mut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::7ab7c8ba317717a57b2c6ba23c7b385c
https://f1000research.com/articles/8-1612/v1
https://f1000research.com/articles/8-1612/v1
Publikováno v:
Asian Journal of Pediatric Nephrology. 4:26
We report the heterogeneous outcomes in congenital nephrotic syndrome (CNS) secondary to variants in NPHS1 gene. We retrospectively reviewed the records of all patients with genetically confirmed NPHS1-related CNS who presented to one center between
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ed613168daa4a3675b2e9af9ca7e4eeb
https://doi.org/10.4103/ajpn.ajpn_18_20
https://doi.org/10.4103/ajpn.ajpn_18_20